Mutagenetix > Incidental Mutation

Incidental Mutation 'R4783:Ascc2'

366734

Institutional Source

Beutler Lab

Gene Symbol

Ascc2

Ensembl Gene

ENSMUSG00000020412

Gene Name

activating signal cointegrator 1 complex subunit 2

Synonyms

1700011I11Rik, ASC1p100, 2610034L15Rik

MMRRC Submission

042416-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4783 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4637747-4685699 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4646653 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 58 (R58H)

Ref Sequence

ENSEMBL: ENSMUSP00000105556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070257] [ENSMUST00000109930]

AlphaFold

Q91WR3

Predicted Effect

probably benign
Transcript: ENSMUST00000070257
AA Change: R58H

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000063272
Gene: ENSMUSG00000020412
AA Change: R58H

Domain	Start	End	E-Value	Type
CUE	465	507	7.59e-11	SMART
low complexity region	599	614	N/A	INTRINSIC
low complexity region	648	663	N/A	INTRINSIC
low complexity region	718	735	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109930
AA Change: R58H

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000105556
Gene: ENSMUSG00000020412
AA Change: R58H

Domain	Start	End	E-Value	Type
CUE	465	507	7.59e-11	SMART
low complexity region	559	574	N/A	INTRINSIC
low complexity region	608	623	N/A	INTRINSIC
low complexity region	678	695	N/A	INTRINSIC

Meta Mutation Damage Score

0.0660

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (99/99)

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082J24Rik	G	A	5: 30,105,200	R54*	probably null	Het
Acsl6	A	T	11: 54,336,993	M350L	probably damaging	Het
Adgrv1	T	C	13: 81,095,445	T6279A	probably damaging	Het
Ago3	A	T	4: 126,368,503	M418K	probably benign	Het
Brinp3	A	G	1: 146,727,640		probably benign	Het
Carmil3	T	C	14: 55,501,321		probably null	Het
Ccdc47	T	A	11: 106,203,604	H7L	probably benign	Het
Ccndbp1	A	T	2: 121,008,522	T5S	probably benign	Het
Cdr2	A	T	7: 120,958,421	F294I	probably benign	Het
Chd8	C	A	14: 52,205,368	C575F	probably damaging	Het
Ctsll3	G	A	13: 60,800,395	T156I	probably damaging	Het
Dgcr8	G	A	16: 18,258,310	R4*	probably null	Het
Dnah1	T	A	14: 31,263,479	K3818N	probably damaging	Het
Dok2	C	T	14: 70,777,874	P347L	probably benign	Het
Elf1	T	A	14: 79,580,743	N567K	probably benign	Het
Emsy	T	C	7: 98,646,479	N72S	possibly damaging	Het
Fam155a	T	C	8: 9,208,026	Y374C	probably damaging	Het
Fam160a1	G	T	3: 85,688,570	T115K	probably damaging	Het
Fam76a	A	T	4: 132,902,117		probably null	Het
Fam76a	A	G	4: 132,916,190	Y78H	probably damaging	Het
Fbn1	A	T	2: 125,324,919	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,969,041	T312A	probably benign	Het
Flnb	A	T	14: 7,905,701	E1150D	probably benign	Het
Galt	T	C	4: 41,758,189	V318A	probably damaging	Het
Git1	T	G	11: 77,499,837	L133R	probably damaging	Het
Gm11168	G	A	9: 3,006,915	M213I	probably benign	Het
Gm7233	A	G	14: 43,179,966	E25G	probably benign	Het
Golga2	T	A	2: 32,297,156	N89K	probably damaging	Het
Grin1	T	A	2: 25,292,381	H956L	possibly damaging	Het
Hlcs	C	T	16: 94,268,539	V164I	possibly damaging	Het
Hmgcr	G	A	13: 96,666,193	T66M	probably damaging	Het
Ifi206	A	T	1: 173,480,866	H521Q	probably benign	Het
Lgals3bp	G	A	11: 118,393,514	T413I	probably damaging	Het
Lrrc7	A	G	3: 158,127,213		probably null	Het
Mapk11	T	C	15: 89,149,488	Y9C	probably damaging	Het
Mccc1	C	A	3: 35,975,873	M429I	probably damaging	Het
Metrnl	A	G	11: 121,707,924	E40G	probably benign	Het
Mrgpra1	A	G	7: 47,335,470	S154P	probably damaging	Het
Myh13	A	T	11: 67,341,270	I459F	probably damaging	Het
Nedd4l	C	A	18: 65,172,927	D424E	probably damaging	Het
Nid1	C	T	13: 13,499,741	R902W	probably damaging	Het
Nphp4	G	A	4: 152,554,546	R878K	probably benign	Het
Numa1	A	G	7: 102,013,566	T1997A	probably damaging	Het
Nutm1	G	A	2: 112,248,936	A878V	probably benign	Het
Nxf1	G	A	19: 8,766,798	A339T	probably benign	Het
Oas1b	C	A	5: 120,814,513	Q90K	probably benign	Het
Olfr1175-ps	A	G	2: 88,323,156	I183T	probably damaging	Het
Olfr1305	A	T	2: 111,873,050	D268E	possibly damaging	Het
Olfr186	G	T	16: 59,027,897	D3E	probably benign	Het
Olfr199	G	T	16: 59,215,859	F251L	probably damaging	Het
Olfr398	A	G	11: 73,984,008	F200S	probably damaging	Het
Olfr721-ps1	A	C	14: 14,407,729	Y167S	possibly damaging	Het
Olfr998	A	G	2: 85,590,938	T133A	probably benign	Het
Optn	T	C	2: 5,054,627	M27V	probably benign	Het
Oxgr1	T	C	14: 120,022,364	I144V	probably benign	Het
Pax5	T	A	4: 44,570,086	T127S	probably damaging	Het
Pcsk2	T	C	2: 143,687,679		probably null	Het
Pdxk	A	G	10: 78,464,792	V19A	possibly damaging	Het
Pik3c2a	A	T	7: 116,417,825	S232R	probably damaging	Het
Ppip5k1	T	C	2: 121,340,848	D620G	possibly damaging	Het
Ppp4r4	T	A	12: 103,590,858		probably null	Het
Pqlc2	G	T	4: 139,300,001	H343Q	probably benign	Het
Psmd1	A	G	1: 86,078,712	N267D	probably damaging	Het
Pudp	A	G	18: 50,568,065	V199A	probably damaging	Het
Rasal3	T	A	17: 32,396,781	D361V	probably damaging	Het
Rbm12	T	C	2: 156,096,564	D596G	possibly damaging	Het
Rbm6	T	C	9: 107,852,903	D182G	probably damaging	Het
Rif1	T	C	2: 52,112,747	V2071A	probably damaging	Het
Rilp	C	T	11: 75,510,641	A110V	possibly damaging	Het
Rprd2	A	G	3: 95,774,333	V332A	probably benign	Het
Sbpl	T	A	17: 23,953,330	D205V	unknown	Het
Scn9a	T	C	2: 66,540,623	I538V	probably benign	Het
Serpina1d	T	C	12: 103,767,824	S74G	possibly damaging	Het
Serpina3n	T	C	12: 104,409,110	I147T	possibly damaging	Het
Serpinb8	A	G	1: 107,604,742	N188S	probably benign	Het
Sipa1l3	A	G	7: 29,377,641	V902A	probably damaging	Het
Slc25a47	T	A	12: 108,855,334	L123Q	probably damaging	Het
Slc30a2	A	T	4: 134,344,006		probably null	Het
Snx13	T	A	12: 35,098,286	D271E	probably damaging	Het
Tbc1d9b	A	G	11: 50,171,298	N1211S	probably benign	Het
Tdrd3	T	A	14: 87,472,101	I67N	probably damaging	Het
Thbs1	T	C	2: 118,114,792	V282A	probably benign	Het
Tmc8	A	G	11: 117,791,605		probably null	Het
Trim11	T	A	11: 58,988,924	F284Y	probably null	Het
Ttn	G	T	2: 76,721,797	Y29419*	probably null	Het
Ttn	A	G	2: 76,769,603	Y19076H	probably damaging	Het
Ubr4	T	C	4: 139,421,733	S448P	possibly damaging	Het
Ugt2b34	T	C	5: 86,891,473	E443G	probably damaging	Het
Usp29	A	G	7: 6,961,391	T78A	probably damaging	Het
Vmn1r227	A	G	17: 20,735,134		noncoding transcript	Het
Vmn1r85	A	T	7: 13,084,861	W119R	probably damaging	Het
Vmn2r12	A	T	5: 109,086,513	V611E	probably damaging	Het
Vmn2r97	A	T	17: 18,929,288	M313L	probably benign	Het
Zap70	T	C	1: 36,779,173	Y314H	probably damaging	Het
Zfp667	T	A	7: 6,305,685	F451I	possibly damaging	Het

Other mutations in Ascc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02749:Ascc2	APN	11	4640481	critical splice donor site	probably null
R0485:Ascc2	UTSW	11	4672302	missense	probably benign	0.01
R0632:Ascc2	UTSW	11	4649855	missense	probably damaging	1.00
R0690:Ascc2	UTSW	11	4682933	missense	probably damaging	1.00
R0942:Ascc2	UTSW	11	4668380	missense	probably benign	0.31
R1893:Ascc2	UTSW	11	4672305	missense	probably benign	0.01
R1991:Ascc2	UTSW	11	4679257	missense	probably benign
R2062:Ascc2	UTSW	11	4681496	missense	probably benign
R2063:Ascc2	UTSW	11	4681496	missense	probably benign
R2065:Ascc2	UTSW	11	4681496	missense	probably benign
R2067:Ascc2	UTSW	11	4681496	missense	probably benign
R2068:Ascc2	UTSW	11	4681496	missense	probably benign
R2292:Ascc2	UTSW	11	4679352	splice site	probably benign
R3076:Ascc2	UTSW	11	4672446	missense	probably damaging	1.00
R4436:Ascc2	UTSW	11	4656305	missense	probably damaging	1.00
R5211:Ascc2	UTSW	11	4673399	missense	possibly damaging	0.95
R5395:Ascc2	UTSW	11	4659273	missense	possibly damaging	0.92
R5859:Ascc2	UTSW	11	4658284	missense	probably benign	0.11
R5917:Ascc2	UTSW	11	4681506	missense	probably benign	0.03
R7569:Ascc2	UTSW	11	4679506	missense	probably damaging	1.00
R7875:Ascc2	UTSW	11	4668389	missense	probably benign	0.00
R8411:Ascc2	UTSW	11	4647208	missense	probably damaging	1.00
R8431:Ascc2	UTSW	11	4664227	critical splice acceptor site	probably null
X0011:Ascc2	UTSW	11	4658297	missense	probably benign
Z1088:Ascc2	UTSW	11	4646656	missense	probably benign	0.03
Z1176:Ascc2	UTSW	11	4646653	missense	probably benign	0.01
Z1176:Ascc2	UTSW	11	4672487	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCACTGTTACTGCTGTGGG -3'
(R):5'- AGCTTCTTACACTGACCCAGGG -3'

Sequencing Primer
(F):5'- GTTGGCAAATGGGGCTCGC -3'
(R):5'- CTGACCCAGGGTGGACAGTAG -3'

Posted On

2015-12-29